Clinical and Genetic Examination of Usher Syndrome Patients' Cohort in Europe

European Research Projects on Rare Diseases Driven by Young Investigators

Status

UNKNOWN

Phases

Unknown

Study type

Observational

Source

ClinicalTrials.gov

Registry ID

NCT01954953

Acronym

EURUSH

Enrollment

100

Registered

2013-10-07

Start date

2013-09-30

Completion date

Unknown

Last updated

2015-02-04

For informational purposes only — not medical advice. Sourced from public registries and may not reflect the latest updates. Terms

Conditions

Usher Syndrome

Keywords

Retinitis Pigmentosa Syndromic, Congenital Deafness, Usher Syndrome Retinitis Pigmentosa and Deafness, Progressive Hearing Loss, Retinitis Pigmentosa

Brief summary

This study aims to characterize Usher patients in order to correlate this data with genetic information. Tasks: * Standardization and improvement of Usher syndrome diagnosis: refine and elaborate special tests of visual and otological function in association with genotype that enable to determine the most significant markers for Usher disease progression and therapeutic effect. * Perform genotype and phenotype correlations in Usher syndrome patients * Develop and maintain database for phenotypically and genotypically well-characterized patient cohorts, suitable for future therapeutic trials

Interventions

None listed

Study design

Observational model

COHORT

Time perspective

PROSPECTIVE

Eligibility

Sex/Gender

ALL

Age

6 Months to 70 Years

Healthy volunteers

Inclusion criteria

: * Clinical characteristics for USH1, USH2 and USH3 as defined by the Usher syndrome consortium; * Informed consent and agreement to participate in the study; * Distance best corrected visual acuity ≥ 0.1.

Exclusion criteria

* Systemic pathologies or severe ocular pathologies, systemic or topical medication usage, and/or other otolaryngology pathologies which could contaminate the results; * Unwillingness to provide a blood sample ; * Unwilling and/or unable to undergo the study procedures.

Design outcomes

Primary

Measure	Time frame	Description
Genotype and phenotype correlations in Usher syndrome patients	up to 3 years (2016)	Protocol outline: patients undergo clinical and molecular studies. These include extensive ophthalmologic (best corrected visual acuity, refraction, tonometry, color vision, visual field testing, pupillography\, full-field electroretinogram, multifocal electroretinogram, autofluorescence imaging, optical coherence tomography, adaptive optics\) examination, audiologic and vestibular evaluation and obtaining blood samples for genetic analysis. \*only if available

Countries

France, Germany, Netherlands, Portugal

Contacts

Primary ContactIeva Sliesoraityte, MD PhD

ieva.sliesoraityte@inserm.fr

Outcome results